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Uncommon Deletions of the Smith-Magenis Syndrome Region Can Be Recurrent When Alternate Low-Copy Repeats Act as Homologous Recombination Substrates

Several homologous recombination “hotspots,” or sites of positional preference for strand exchanges, associated with recurrent deletions and duplications have been reported within large low-copy repeats (LCRs). Recently, such a hotspot was identified in patients with the Smith-Magenis syndrome (SMS)...

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שמור ב:
מידע ביבליוגרפי
Main Authors: Shaw, Christine J., Withers, Marjorie A., Lupski, James R.
פורמט: Artigo
שפה:Inglês
יצא לאור: The American Society of Human Genetics 2004
נושאים:
גישה מקוונת:https://ncbi.nlm.nih.gov/pmc/articles/PMC1182010/
https://ncbi.nlm.nih.gov/pubmed/15148657
תגים: הוספת תג
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